A Case Series of Cystinuric Stone Formers in Western Cape, South Africa: SLC3A1 or SLC7A9 Mutations and Phenotype
ObjectiveTo describe the genetic mutations and phenotype in the first African series of patients with cystinuria. MethodsPatients with cystinuria were recruited from a specialist metabolic renal stone clinic in Cape Town, South Africa, for DNA sequencing to detect mutations in SLC3A1 and SLC7A9. Ch...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-05-01
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| Series: | Société Internationale d’Urologie Journal |
| Subjects: | |
| Online Access: | https://siuj.org/index.php/siuj/article/view/261/209 |
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